SPENCD is a rare autosomic recessive disorder characterized by multiple skeletal dysplasia, neurological involvement, and immune dysfunction with an increased IFN type I signature in peripheral blood and urine, due to mutations of tartrate-resistant acid phosphatase (TRAP) gene (ACP5) (58, 59). The gene discussed is ACP5; the disease is Spondyloenchondrodysplasia with immune dysregulation.